Results 11 to 20 of about 35,591 (238)

Establishment of a PBMC-derived induced pluripotent stem cell (NJUCMi001-A) from a patient with LAMA2-related congenital muscular dystrophy (MDC1A) carrying frameshift deletion c.3367delA in LAMA2 gene

Stem Cell Research, 2022
LAMA2-related congenital muscular dystrophy (MDC1A), the most commonly recognized type of congenital muscular dystrophies, is a severe neonatal onset muscle disease caused by recessive mutations in the LAMA2 gene.
Qiang Rui, Jing Tan, Jing Jin, Weijiao Ye, Yaping Zhou, Junqing Chen   +5 more
doaj   +1 more source

Fibrogenesis in LAMA2-Related Muscular Dystrophy Is a Central Tenet of Disease Etiology

Frontiers in Molecular Neuroscience, 2020
LAMA2-related congenital muscular dystrophy, also known as MDC1A, is caused by loss-of-function mutations in the alpha2 chain of Laminin-211. Loss of this protein interrupts the connection between the muscle cell and its extracellular environment and ...
Anthony Accorsi, Megan L. Cramer, Mahasweta Girgenrath   +2 more
doaj   +1 more source

Occipital cortex dysgenesis with white matter changes due to mutations in Laminin a2

The Turkish Journal of Pediatrics, 2017
Laminin α2 related congenital muscular dystrophy is one of the most common congenital muscular dystrophies of childhood with or without clinical evidence of central nervous system involvement.
Uluç Yiş, Vishal Dixit, Sedat Işıkay, Mert Karakaya, Figen Baydan, Gülden Diniz, İpek Polat, Semra Hız-Kurul, Sebahattin Çırak   +8 more
doaj   +1 more source

Congenital muscular dystrophy: from muscle to brain. [PDF]

, 2016
Congenital muscular dystrophies (CMDs) are a wide group of muscular disorders that manifest with very early onset of muscular weakness, sometime associated to severe brain involvement.The histologic pattern of muscle anomalies is typical of dystrophic ...
Corsello G, Falsaperla R, Parano E, Pavone P, Praticò AD, Rizzo R, Ruggieri M, Vitaliti G   +7 more
core   +1 more source

Laminin α5_CD239_Spectrin is a candidate association that compensates the linkage between the basement membrane and cytoskeleton in skeletal muscle fibers

Matrix Biology Plus, 2022
The linkage between the basement membrane (BM) and cytoskeleton is crucial for muscle fiber stability and signal transduction. Mutations in the linkage molecules can cause various types of muscular dystrophies. The different severities and times of onset
Yamato Kikkawa, Masumi Matsunuma, Ryuji Kan, Yuji Yamada, Keisuke Hamada, Motoyoshi Nomizu, Yoichi Negishi, Shushi Nagamori, Tatsushi Toda, Minoru Tanaka, Motoi Kanagawa   +10 more
doaj   +1 more source

Angiotensin II type 1 receptor antagonists alleviate muscle pathology in the mouse model for laminin-alpha2-deficient congenital muscular dystrophy (MDC1A) [PDF]

, 2012
BACKGROUND: Laminin-alpha2-deficient congenital muscular dystrophy (MDC1A) is a severe muscle-wasting disease for which no curative treatment is available.
Lin, Shuo, Meinen, Sarina, Ruegg, Markus A.   +2 more
core   +1 more source

The UK myotonic dystrophy patient registry: facilitating and accelerating clinical research [PDF]

, 2017
Myotonic dystrophy type 1 (DM1) is the most frequent muscular dystrophy worldwide with complex, multi-systemic, and progressively worsening symptoms. There is currently no treatment for this inherited disorder and research can be challenging due to the ...
Atalaia, Antonio, Cordts, Isabell, Hammans, Simon, Hilton-Jones, David, Jimenez-Moreno, Aura Cecilia, Lochmüller, Hanns, Maddison, Paul, Marini-Bettolo, Chiara, Monckton, Darren G., Nikolenko, Nikoletta, Orrell, Richard, Petty, Richard, Phillips, Margaret, Roberts, Mark, Rogers, Mark, Straub, Volker, Thompson, Rachel, Turner, Chris, Wood, Libby   +18 more
core   +4 more sources

Compound heterozygous POMGNT1 mutations leading to muscular dystrophy-dystroglycanopathy type A3: a case report

BMC Pediatrics, 2019
Background Dystroglycanopathies, which are caused by reduced glycosylation of alpha-dystroglycan, are a heterogeneous group of neurodegenerative disorders characterized by variable brain and skeletal muscle involvement.
Kondakova Olga Borisovna, Krasnenko Anna Yurievna, Tsukanov Kirill Yurievich, Klimchuk Olesya Igorevna, Korostin Dmitriy Olegovich, Davidova Anna Igorevna, Batysheva Tatyana Timofeevna, Zhurkova Natalia Vyacheslavovna, Surkova Ekaterina Ivanovna, Shatalov Peter Alekseevich, Ilinsky Valery Vladimirovich   +10 more
doaj   +1 more source

An autopsy study of a familial oculopharyngeal muscular dystrophy (OPMD) with distal spread and neurogenic involvement [PDF]

, 1981
An 81-year-old man from a family with a history of oculopharyngeal muscular dystrophy (OPMD) involving 6 members over 4 generations is described. The patient first noted drooping of his eyelids at the age of 65.
Aarli, Adams, Amyot, Barbeau, Bosch, Bray, Campanella, Cohen, Cox, Coërs, Croft, Direkze, Dutil, Fried, Fuchs, Goto, Graef von, Graf, Hartmann, Hayes, Julien, Kearns, Kiloh, Krause, Lakin, Lees, Lewis, Liversedge, Lundberg, Man, Maningand, Mater, Matsunaga, Murphy, Myrianthopoulos, Nicolaissen, Peterman, Radu, Rebeiz, Roberts, Satoyoshi, Saucier, Schmitt, Schmitt, Schotland, Schwarz, Szobar, Taylor, Victor, Zellweger   +49 more
core   +1 more source

Anesthesia for a child with Walker–Warburg syndrome

Brazilian Journal of Anesthesiology, 2014
Background and objectives: Walker–Warburg Syndrome is a rare, autosomal recessive congenital muscular dystrophy manifested by central nervous system, eye malformations and possible multisystem involvement.
Emine Arzu Kose, Bulent Bakar, Gokay Ates, Didem Aliefendioglu, Alpaslan Apan   +4 more
doaj   +1 more source